| D002880 |
Chromosomes, Human, Pair 11 |
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. |
Chromosome 11 |
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| D002889 |
Chromosomes, Human, Pair 2 |
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. |
Chromosome 2 |
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| D005260 |
Female |
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Females |
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| D005333 |
Fetus |
The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN. |
Fetal Structures,Fetal Tissue,Fetuses,Mummified Fetus,Retained Fetus,Fetal Structure,Fetal Tissues,Fetus, Mummified,Fetus, Retained,Structure, Fetal,Structures, Fetal,Tissue, Fetal,Tissues, Fetal |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000015 |
Abnormalities, Multiple |
Congenital abnormalities that affect more than one organ or body structure. |
Multiple Abnormalities |
|
| D014178 |
Translocation, Genetic |
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. |
Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic |
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| D014849 |
Waardenburg Syndrome |
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. |
Klein-Waardenburg Syndrome,Waardenburg's Syndrome,Klein Syndrome,Klein's Syndrome,Waardenburg Syndrome Type 1,Waardenburg Syndrome Type 3,Waardenburg Syndrome with Dystopia Canthorum,Waardenburg Syndrome with Upper Limb Anomalies,Waardenburg Syndrome, Type 1,Waardenburg Syndrome, Type 3,Waardenburg Syndrome, Type III,Waardenburg's Syndrome Type 1,Waardenburg-Klein Syndrome,White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations,Klein Waardenburg Syndrome,Kleins Syndrome,Syndrome, Klein,Syndrome, Klein's,Syndrome, Klein-Waardenburg,Syndrome, Waardenburg,Syndrome, Waardenburg's,Syndrome, Waardenburg-Klein,Waardenburg Klein Syndrome,Waardenburgs Syndrome |
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